CABLES2

Cdk5 and Abl enzyme substrate 2

Basic information

Region (hg38): 20:62388634-62407285

Previous symbols: [ "C20orf150" ]

Links

ENSG00000149679 ∙ NCBI:81928 ∙ OMIM:618772 ∙ HGNC:16143 ∙ Uniprot:Q9BTV7 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the CABLES2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CABLES2 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous					1	1
missense			43	1		44
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	43	1	1

Variants in CABLES2

This is a list of pathogenic ClinVar variants found in the CABLES2 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
20-62390987-A-G		not specified	Uncertain significance (Mar 03, 2022)
20-62391029-A-G		not specified	Uncertain significance (Nov 03, 2022)
20-62391065-A-G		not specified	Uncertain significance (Nov 30, 2022)
20-62391310-A-C		not specified	Uncertain significance (Dec 08, 2023)
20-62391406-G-T		not specified	Uncertain significance (Nov 15, 2021)
20-62391436-C-T		not specified	Uncertain significance (Mar 16, 2022)
20-62391437-G-A		not specified	Uncertain significance (Mar 01, 2024)
20-62391439-A-G		not specified	Uncertain significance (Sep 07, 2022)
20-62392440-G-T		not specified	Uncertain significance (Nov 17, 2023)
20-62392454-C-A		not specified	Uncertain significance (Jul 12, 2023)
20-62392477-C-T		not specified	Uncertain significance (Nov 14, 2023)
20-62392489-C-T		not specified	Uncertain significance (Feb 06, 2024)
20-62392945-C-T		not specified	Uncertain significance (Jun 29, 2023)
20-62393451-C-T		not specified	Uncertain significance (Mar 01, 2023)
20-62393472-G-A		not specified	Uncertain significance (Dec 05, 2022)
20-62393485-G-A		not specified	Likely benign (Mar 07, 2024)
20-62393487-C-T		not specified	Uncertain significance (May 30, 2024)
20-62393602-C-T		not specified	Uncertain significance (Jan 30, 2024)
20-62394213-C-T		EBV-positive nodal T- and NK-cell lymphoma	Likely benign (-)
20-62394240-G-C		not specified	Uncertain significance (Apr 15, 2024)
20-62394983-A-G		not specified	Uncertain significance (Apr 18, 2023)
20-62394992-G-A		not specified	Uncertain significance (May 24, 2024)
20-62396343-T-G		not specified	Uncertain significance (Jun 07, 2023)
20-62396360-G-A		not specified	Uncertain significance (Jan 17, 2024)
20-62396572-C-T		not specified	Uncertain significance (Nov 12, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CABLES2	protein_coding	protein_coding	ENST00000279101	10	18654

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000210	0.980	125709	0	38	125747	0.000151

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.893	194	232	0.835	0.0000155	3026
Missense in Polyphen		92	112.03	0.82121		1147
Synonymous	-0.282	110	106	1.03	0.00000783	1048
Loss of Function	2.07	9	18.6	0.483	9.42e-7	231

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000590	0.000578
Ashkenazi Jewish	0.0000996	0.0000992
East Asian	0.000110	0.000109
Finnish	0.000185	0.000185
European (Non-Finnish)	0.000107	0.000105
Middle Eastern	0.000110	0.000109
South Asian	0.000164	0.000163
Other	0.000328	0.000326

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Unknown. Probably involved in G1-S cell cycle transition.
• Pathway: Factors involved in megakaryocyte development and platelet production;Hemostasis (Consensus)

Recessive Scores

• pRec: 0.121

Intolerance Scores

• loftool: 0.765
• rvis_EVS: -0.07
• rvis_percentile_EVS: 48.69

Haploinsufficiency Scores

• pHI: 0.195
• hipred: N
• hipred_score: 0.309
• ghis: 0.495

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.896

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Cables2

Gene ontology

• Biological process: cell cycle;cell division;regulation of cell cycle